ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.1774A>T (p.Met592Leu)

dbSNP: rs1457373665
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001976442 SCV002264272 uncertain significance Developmental and epileptic encephalopathy, 12 2021-12-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with PLCB1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 592 of the PLCB1 protein (p.Met592Leu).
Ambry Genetics RCV004042298 SCV005006452 uncertain significance Inborn genetic diseases 2023-12-12 criteria provided, single submitter clinical testing The c.1774A>T (p.M592L) alteration is located in exon 18 (coding exon 18) of the PLCB1 gene. This alteration results from a A to T substitution at nucleotide position 1774, causing the methionine (M) at amino acid position 592 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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